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| 33432185 | Author Correction: Mutations disrupting neuritogenesis genes confer risk for cerebral palsy. | Nat Genet | 2021 |
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| 34059824 | Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis. | Nat Med | 2021 |
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| 32376980 | Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7. | Genet Med | 2020 |
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| 31834374 | MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis. | Brain | 2020 |
| 32298033 | A qualitative study of Latinx parents' experiences of clinical exome sequencing. | J Genet Couns | 2020 |
| 31570375 | Evolving Roles of Genetic Counselors in the Clinical Laboratory. | Cold Spring Harbor Perspectives in Medicine | 2020 |
| 32989326 | Mutations disrupting neuritogenesis genes confer risk for cerebral palsy. | Nat Genet | 2020 |
| 32969094 | Advancing the genetic counseling profession through research: Identification of priorities by the National Society of Genetic Counselors research task force. | J Genet Couns | 2020 |
| 32573057 | Estimating the relative frequency of leukodystrophies and recommendations for carrier screening in the era of next-generation sequencing. | Am J Med Genet A | 2020 |
| 33268356 | Histone H3.3 beyond cancer: Germline mutations in <i>Histone 3 Family 3A and 3B</i> cause a previously unidentified neurodegenerative disorder in 46 patients. | Sci Adv | 2020 |
| 32553196 | De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay. | Am J Hum Genet | 2020 |
| 30827498 | De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome. | Am J Hum Genet | 2019 |
| 30245509 | TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants. | Genet Med | 2019 |
| 30580808 | Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay. | Am J Hum Genet | 2019 |
| 30327536 | Correction: TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants. | Genet Med | 2019 |
| 30323019 | De novo pathogenic variants in neuronal differentiation factor 2 (NEUROD2) cause a form of early infantile epileptic encephalopathy. | J Med Genet | 2019 |
| 30612693 | De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies. | Am J Hum Genet | 2019 |
| 31474318 | Redefining the Etiologic Landscape of Cerebellar Malformations. | Am J Hum Genet | 2019 |
| 31267042 | Correction: Variants in MED12L, encoding a subunit of the Mediator kinase module, are responsible for intellectual disability associated with transcriptional defect. | Genet Med | 2019 |
| 31155615 | Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional defect. | Genet Med | 2019 |
| 30778173 | De novo variants in HK1 associated with neurodevelopmental abnormalities and visual impairment. | Eur J Hum Genet | 2019 |
| 30664714 | Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures. | Eur J Hum Genet | 2019 |
| 31327001 | Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size. | Brain | 2019 |
| 30929740 | De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-progressive Neurocognitive Syndrome. | Am J Hum Genet | 2019 |
| 29276004 | Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila. | Am J Hum Genet | 2018 |
| 28866611 | Missense variants in the chromatin remodeler <i>CHD1</i> are associated with neurodevelopmental disability. | J Med Genet | 2018 |
| 28881385 | Expansion and further delineation of the SETD5 phenotype leading to global developmental delay, variable dysmorphic features, and reduced penetrance. | Clin Genet | 2018 |
| 30224647 | De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation. | Nat Genet | 2018 |
| 30057030 | Mutations in TOP3A Cause a Bloom Syndrome-like Disorder. | Am J Hum Genet | 2018 |
| 30012219 | Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy. | Orphanet J Rare Dis | 2018 |
| 30388402 | NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly. | Am J Hum Genet | 2018 |
| 30055086 | De novo missense variants in MEIS2 recapitulate the microdeletion phenotype of cardiac and palate abnormalities, developmental delay, intellectual disability and dysmorphic features. | Am J Med Genet A | 2018 |
| 30290154 | Mutations in KCNK4 that Affect Gating Cause a Recognizable Neurodevelopmental Syndrome. | Am J Hum Genet | 2018 |
| 30290155 | A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis. | Am J Hum Genet | 2018 |
| 30194818 | Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature. | Am J Med Genet A | 2018 |
| 30290151 | A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation. | Am J Hum Genet | 2018 |
| 30193137 | Mutations in TOP3A Cause a Bloom Syndrome-like Disorder. | Am J Hum Genet | 2018 |
| 29675991 | Genetic counseling in industry settings: Opportunities in the era of precision health. | American Journal of Medical Genetics, Part C: Seminars in Medical Genetics | 2018 |
| 29266212 | Diagnostic exome sequencing in children: A survey of parental understanding, experience and psychological impact. | Clin Genet | 2018 |
| 29394990 | Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes. | Am J Hum Genet | 2018 |
| 29393965 | De novo variants in CDK13 associated with syndromic ID/DD: Molecular and clinical delineation of 15 individuals and a further review. | Clin Genet | 2018 |
| 29656859 | Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia. | Am J Hum Genet | 2018 |
| 29656858 | A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis. | Am J Hum Genet | 2018 |
| 29554255 | Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy. | Human Molecular Genetics | 2018 |
| 29474920 | A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures. | Cell | 2018 |